Description:
TRICARBOXYLIC ACID CYCLE, DEFECT OF
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Pyruvate dehydrogenase complex deficiency (20% of control); severe diffuse neurologic disease and persistent lactic acidosis |
| Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ, Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. J Biol Chem265:13320-6 1990 |
| PubMed ID: 2376596 |
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| Constantopoulos G, Greenwood MA, Sorrell SH, Mitochondrial abnormalities in fibroblast line GM3093 defective in oxidative metabolism. Experientia42:315-8 1986 |
| PubMed ID: 3082666 |
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| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
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| Sorbi S, Blass JP, Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. J Biochem Biophys Methods5:169-76 1981 |
| PubMed ID: 7299037 |
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| Constantopoulos G, Chang CS, Barranger JA, Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia. Ann Neurol8:636-9 1980 |
| PubMed ID: 7212654 |
| Passage Frozen |
12 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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